BACKGROUNDTumor necrosis factor alpha (TNFalpha) is an important proinflammatory cytokine that has been implicated in the pathogenesis of inflammatory bowel disease (IBD). Recent studies have evaluated the role of TNF promoter polymorphisms in IBD, whereas the data are inconsistent. Trans-racial mapping in an ethnically distinct but homogenous population may help clarify these associations. We investigate the association between TNF promoter polymorphisms and susceptibility to ulcerative colitis (UC) in the Chinese Han ethnic population.

METHODSWe studied 110 unrelated UC patients and 292 healthy controls from Zhejiang Province, China. Genotyping for 6 common TNF promoter polymorphisms (TNF -1031T/C, -863C/A, -857C/T, -380G/A, -308G/A, -238G/A) was carried out by polymerase chain reaction sequence-specific primers (PCR-SSP).

RESULTSTNF -308A was associated with disease (allele frequency patients 14.6% vs controls 8.9%, P = 0.02). TNF -857T was increased in patients but without statistical significance (allele frequency 17.3% vs 12.2%, P = 0.06). Haplotype analysis revealed 6 haplotypes including two (H5 and H3), which contained TNF -308A. H5 was associated with disease (haplotype frequency patients -12.3% vs controls 7.5%, P = 0.03). Of note the rare haplotype H3 has not previously been identified in Caucasian populations. Homozygosity for the haplotype H4 comprising the common alleles at each TNF promoter single-nucleotide polymorphism (SNP) was negatively associated with disease (patients vs controls 24.5% vs 34.9%, P < 0.05).

CONCLUSIONSWe report the association with TNF -308A polymorphisms in Chinese patients with ulcerative colitis. The functional study in Chinese Han ethnic population is now required.

China ; ethnology ; Colitis, Ulcerative ; genetics ; Genetic Predisposition to Disease ; Haplotypes ; Humans ; Polymorphism, Genetic ; Tumor Necrosis Factor-alpha ; genetics

The eotaxin gene family (eotaxin, eotaxin-2 and eotaxin-3) have been implicated in the recruitment of eosinophils, basophiles and helper T (Th) 2 lymphocytes that is a central aspect of allergic disease. We previously suggested that Eo2+179T>C and Eo2 +275C>T of the eotaxin-2, and Eo3 +2497T>G of the eotaxin-3 were significantly associated with susceptibility to asthma. To determine whether the single nucleotide polymorphisms (SNPs) of eotaxin-2 and eotaxin-3 gene family are associated with the susceptibility of ulcerative colitis (UC), we analyzed the genotype of 119 patients with UC and 303 controls using single-base extension (SBE) method. We also calculated the haplotype frequencies among Eo2 +179T>C and Eo2 +275C >T of the eotaxin-2 and Eo3 +2497T>G of the eotaxin-3 in both control and UC patients. The genotype frequency of Eo2 +179T>C and Eo2 +275C>T between UC patients and controls were significantly different (P=0.006 and 0.022, respectively). The genotype and allele frequencies of EoA2497T>G in UC patients were not significantly different from those in the controls without UC patients. Our results suggest that Eo2 +179T>C and Eo2 +275C>T of eotaxin-2 might be associated with the susceptibility of UC.
Adult ; Alleles ; Asian Continental Ancestry Group/*genetics ; Case-Control Studies ; Chemokines, CC/*genetics ; Colitis, Ulcerative/ethnology/*genetics ; Female ; Genetic Predisposition to Disease/*genetics ; Haplotypes ; Humans ; Korea ; Male ; Middle Aged ; Polymorphism, Genetic/*genetics ; Research Support, Non-U.S. Gov't